title: Crouzon syndrome and Bent bone dysplasia associated with mutations at the same Tyr-381 residue in FGFR2 gene.
authors.affiliation: Service de Biochimie et Biologie Moléculaire, Hôpital Lariboisière, Paris, France.
authors.forename: C
authors.initials: C
authors.lastname: Collet
authors.forename: J-L
authors.initials: JL
authors.lastname: Alessandri
authors.forename: E
authors.initials: E
authors.lastname: Arnaud
authors.forename: M
authors.initials: M
authors.lastname: Balu
authors.forename: V C
authors.initials: VC
authors.lastname: Daire
authors.forename: F
authors.initials: F
authors.lastname: Di Rocco
mesh_terms: D000328:Adult; D001216:Asparagine / Q000235:genetics; D001848:Bone Diseases, Developmental / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D003394:Craniofacial Dysostosis / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics*; D014443:Tyrosine / Q000235:genetics
chemical_list: D014443:Tyrosine; D001216:Asparagine; C496353:FGFR2 protein, human; D051497:Receptor, Fibroblast Growth Factor, Type 2